Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase.

"Perinatal" hypophosphatasia is the most severe form of this inborn error of metabolism, which is characterized by deficient activity of the tissue-nonspecific (liver/bone/kidney) isoenzyme of alkaline phosphatase (ALP) (TNSALP). We report that autopsy tissue from three affected subjects,...

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Hlavní autoři: Whyte, M P, Mahuren, J D, Fedde, K N, Cole, F S, McCabe, E R, Coburn, S P
Médium: Artigo
Jazyk:Inglês
Vydáno: 1988
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC329654/
https://ncbi.nlm.nih.gov/pubmed/3350970
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